Canonical Allele Identifier: CA412394766

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373827C>G (hg19) ; chrX:g.19355709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355709C>G , CM000685.2:g.19355709C>G	GRCh38
NC_000023.10:g.19373827C>G , CM000685.1:g.19373827C>G	GRCh37
NC_000023.9:g.19283748C>G	NCBI36
NG_016781.1:g.16817C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.804C>G	ENSP00000348062.6:p.Cys268Trp
ENST00000379805.4:c.*475C>G	ENSP00000369133.3:n.*475C>G
ENST00000417819.6:c.867C>G	ENSP00000404616.2:p.Cys289Trp
ENST00000423505.6:c.897C>G	ENSP00000406473.2:p.Cys299Trp
ENST00000481733.2:n.578C>G
ENST00000696704.1:c.*115C>G	ENSP00000512823.1:n.*115C>G
ENST00000696705.1:c.*238C>G	ENSP00000512824.1:n.*238C>G
ENST00000422285.7:c.783C>G MANE Select	ENSP00000394382.2:p.Cys261Trp
ENST00000379804.1:c.-61C>G	ENSP00000369132.1:n.-61C>G
ENST00000379806.9:c.897C>G	ENSP00000369134.5:p.Cys299Trp
ENST00000422285.6:c.783C>G	ENSP00000394382.2:p.Cys261Trp
ENST00000481733.1:n.211C>G
ENST00000540249.5:c.690C>G	ENSP00000440761.1:p.Cys230Trp
ENST00000545074.5:c.804C>G	ENSP00000438550.1:p.Cys268Trp
NM_000284.3:c.783C>G	NP_000275.1:p.Cys261Trp
NM_001173454.1:c.897C>G	NP_001166925.1:p.Cys299Trp
NM_001173455.1:c.804C>G	NP_001166926.1:p.Cys268Trp
NM_001173456.1:c.690C>G	NP_001166927.1:p.Cys230Trp
XM_011545531.1:c.918C>G	XP_011543833.1:p.Cys306Trp
XM_011545532.1:c.825C>G	XP_011543834.1:p.Cys275Trp
XM_017029574.2:c.804C>G	XP_016885063.1:p.Cys268Trp
NM_000284.4:c.783C>G MANE Select	NP_000275.1:p.Cys261Trp
NM_001173454.2:c.897C>G	NP_001166925.1:p.Cys299Trp
NM_001173455.2:c.804C>G	NP_001166926.1:p.Cys268Trp
NM_001173456.2:c.690C>G	NP_001166927.1:p.Cys230Trp